Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis; D007074:Immunoglobulin G / Q000032:analysis; D007223:Infant; D008297:Male; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D013577:Syndrome; D016216:Ultrasonography, Prenatal
D018797:Cell Cycle Proteins; D007070:Immunoglobulin A; D007074:Immunoglobulin G; C112156:NBN protein, human; D009687:Nuclear Proteins